{"id":"hum0277","secondaryIds":[],"version":1,"url":"https://humandbs.dbcls.jp/research/hum0277/v1","datePublished":"2022-09-09","versions":[{"version":1,"datePublished":"2022-09-09"},{"version":2,"datePublished":"2023-04-18"},{"version":3,"datePublished":"2023-05-10"},{"version":4,"datePublished":"2025-09-17"}],"title":{"ja":"泌尿器科領域の腫瘍性疾患の発症、進展、及び薬剤の治療効果に関わる遺伝子の解析","en":"Analysis of genes related to the oncogenesis, progression or effectiveness of drug therapies of urological tumors"},"summary":{"aims":{"ja":"網羅的なエピゲノム解析を行うことで、泌尿器系の腫瘍の発症・進展・治療効果に寄与する分子メカニズムを明らかにし、発症機構や治療機構を解明する。","en":"To clarify the oncogenesis and the progression mechanisms of urological tumors, we performed comprehensive epi-genetic analyses. Through the analyses, we aim for elucidating the oncogenesis or for developing new treatment strategies for each cancer."},"methods":{"ja":"single cell RNA-seq（scRNA-seq）、Whole exome sequencing（WES）、RNA-seqを実施。\n・scRNA-seq：各切除検体を1細胞処理し、Chromium single cell 3' kit（10XGenomics）の工程に従いライブラリ作成後、NextSeq 500（イルミナ社）でペアエンドシーケンスを実施する。\n・WES：SureSelect Human All Exon V6 （Agilent Technologies）にてライブラリ作成後、NovaSeq 6000/PE150（Illumina）にてシーケンスを実施する。\n・RNA-seq：TruSeq Stranded mRNA Library Prep KitおよびTruSeq RNA CD Index Kit （Dual Index）にてライブラリ作成後、Hiseq 2500 （Illumina）にてシーケンスを実施する。","en":"single-cell RNA sequencing (scRNA-seq), whole exome sequencing (WES), and RNA-seq\n- scRNA-seq: We sliced surgically resected specimens and minced and digested into the single cell level. Libraries were prepared using Chromium single cell 3' kit (10X Genomics) according to the manufacturer's protocol. Paired-end sequencing was conducted on the NextSeq 500 platform (Illumina).\n- WES: Libraries were prepared using SureSelect Human All Exon V6 (Agilent Technologies) and sequenced by using of NovaSeq 6000/PE150 (Illumina).\n- RNA-seq: Libraries were prepared using TruSeq Stranded mRNA Library Prep Kit and TruSeq RNA CD Index Kit (Dual Index) and sequenced by using of HiSeq 2500 (Illumina)."},"targets":{"ja":"Birt-Hogg-Dubé（BHD）関連腎がん10症例、hereditary leiomyomatosis and renal cell cancer（HLRCC）関連腎がん1症例、Von Hippel-Lindau（VHL）関連腎がん2症例、散発性淡明細胞型腎がん2症例\n・scRNA-seq：BHD関連腎がん 2症例 2検体、HLRCC関連腎がん 1症例 2検体、VHL関連腎がん 2症例 2検体、散発性淡明細胞型腎がん 2症例 6検体（腎腫瘍組織 4検体、正常腎組織 2検体）\n・WES：BHD関連腎がん 2症例 2検体、HLRCC関連腎がん 1症例 2検体、VHL関連腎がん 2症例 2検体、散発性淡明細胞型腎がん 2症例 4検体、および、各症例の正常腎組織 7検体\n・RNA-seq：BHD関連腎がん 10症例 21検体（腎腫瘍組織 16検体、正常腎組織 5検体）","en":"10 patients with Birt-Hogg-Dubé (BHD) associated renal cell carcinoma (RCC), 1 patient with hereditary leiomyomatosis and renal cell cancer (HLRCC) associated RCC, 2 patients with Von Hippel-Lindau (VHL) associated RCC, and 2 patients with sporadic clear cell RCCs (ccRCC)\n- scRNA-seq: 2 BHD-associated RCC, 1 HLRCC-associated RCC, 2 VHL-associated RCCs, and 2 ccRCC\n- WES: 2 BHD-associated RCC, 1 HLRCC-associated RCC, 2 VHL-associated RCCs, and 2 ccRCC\n- RNA-seq: 10 BHD-associated RCCs"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"BHD関連腎がん、HLRCC関連腎がん、VHL関連腎がん、ならびに散発性淡明細胞型腎がんの腫瘍組織および非腫瘍組織から抽出したDNA/RNAを用いたsingle cell RNA-seq、whole exome sequencing、RNA-seq解析データをfastqファイル形式で提供する。","en":"DNAs/RNAs extracted from tumor and paired non-tumor tissues of renal cell carcinoma (RCC) patients were used for the single-cell RNA sequencing, whole exome sequencing, and RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"蓮見 壽史","en":"Hisashi Hasumi"},"organization":{"name":{"ja":"横浜市立大学 泌尿器科学","en":"Department of Urology, Yokohama City University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"癌抑制遺伝子FLCNの代謝および膜輸送制御に着目した腎腫瘍化機構の解析研究","en":"Analysis on the mechanism of renal tumorigenesis focusing on the metabolic and membrane transport regulation of FLCN"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["19K09694"]},{"title":{"ja":"横浜市立大学先端医科学研究センター「マルチオミックスによる遺伝子発現制御の先端的医学共同研究拠点」","en":"The Advanced Medical Research Center of Yokohama City University \"Center for Advanced Medical Research Collaboration in Multi-omics Gene Expression Regulation\""},"agency":{"ja":"文部科学省「特色ある共同利用・共同研究拠点事業」","en":"the MEXT Joint Usage/Research Center Program"},"grantIds":null}],"relatedPublications":[{"title":"Single-cell transcriptomes underscore genetically distinct tumor characteristics and microenvironment for hereditary kidney cancers","doi":"https://doi.org/10.1016/j.isci.2022.104463","datasets":["JGAD000414"]}],"datasets":["JGAD000414"],"controlledAccessUsers":[{"principalInvestigator":{"en":"Antonio Finelli"},"affiliation":{"en":"Department of Surgical Oncology, University Health Network/Princess Margaret Cancer Center"},"country":{"ja":"カナダ","en":"Canada"},"researchTitle":{"en":"Identifying novel immune evasion tumor immune networks as targets for ccRCC immunotherapy"},"periodStart":"2023-11-16","periodEnd":"2024-11-13","datasets":["JGAD000414","JGAD000686"]},{"principalInvestigator":{"ja":"嘉島 相輝","en":"Soki Kashima"},"affiliation":{"ja":"大学院医学系研究科腎泌尿器科学講座, 秋田大学","en":"Urology, Akita University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"泌尿器癌(腎細胞癌、尿路上皮癌)における免疫療法の治療応答と有害事象の予測を目的とするバイオマーカーの探索研究","en":"A study to identify biomarkers for predicting treatment response and adverse events in immunotherapy for urological cancers (renal cell carcinoma and urothelial carcinoma)"},"periodStart":"2026-06-18","periodEnd":"2034-05-31","datasets":["JGAD000686","JGAD000872"]}]}